RBCC Red Blood Cell Collection

GSH1_HUMAN

Source: hRBCD ; ID: IPI00215768
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: GCLC , GLCL, GLCLC
Protein names and data: GSH1_HUMAN , Glutamate--cysteine ligase catalytic subunit; 6.3.2.2 , GCS heavy chain; Gamma-ECS; Gamma-glutamylcysteine synthetase Lenght: 637 a.a.
Mass: 72766 Da
fasta formatted sequence
Catalytic activity: ATP + L-glutamate + L-cysteine = ADP + phosphate + gamma-L-glutamyl-L-cysteine.
Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.
Disease: ( OMIM: 230450 606857 ) Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

55 - 55 L -> S (in dbSNP:rs2066512). VAR_014884 2066512
127 - 127 R -> C (in HAGGSD). VAR_021110
158 - 158 P -> L (in HAGGSD). VAR_015403
370 - 370 H -> L (in HAGGSD). VAR_013514
462 - 462 P -> S (in dbSNP:rs17883718). VAR_021100 17883718

Database cross-references

UniProt: P48506
Ensembl: ENST00000229416
Ensembl: ENST00000514004
MIM: 230450
MIM: 606857
neXtProt: NX_P48506
Antibodypedia: P48506 (may not find the protein thus also not any antibody)
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